Canonical Allele Identifier: CA1457429139

Gene: SGCB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028023_52028033delinsAATACACCTTC , CM000666.2:g.52028023_52028033delinsAATACACCTTC	GRCh38
NC_000004.11:g.52894189_52894199delinsAATACACCTTC , CM000666.1:g.52894189_52894199delinsAATACACCTTC	GRCh37
NC_000004.10:g.52588946_52588956delinsAATACACCTTC	NCBI36
NG_008891.1:g.15287_15297delinsGAAGGTGTATT , LRG_204:g.15287_15297delinsGAAGGTGTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.688_698delinsGAAGGTGTATT MANE Select	ENSP00000370839.6:p.Glu230=
ENST00000381431.9:c.688_698delinsGAAGGTGTATT	ENSP00000370839.5:p.Glu230=
NM_000232.4:c.688_698delinsGAAGGTGTATT , LRG_204t1:c.688_698delinsGAAGGTGTATT	NP_000223.1:p.Glu230=
XM_006714049.2:c.391_401delinsGAAGGTGTATT	XP_006714112.1:p.Glu131=
XM_011534403.1:c.478_488delinsGAAGGTGTATT	XP_011532705.1:p.Glu160=
XM_011534404.1:c.391_401delinsGAAGGTGTATT	XP_011532706.1:p.Glu131=
NM_000232.5:c.688_698delinsGAAGGTGTATT MANE Select	NP_000223.1:p.Glu230=